RESUMEN
As the definition of genetic counseling continues to evolve, so does the application of genetic counseling services in all areas of medicine and throughout the human life cycle. While governmental policy, economics, ethics, and religion continue to influence society's views regarding the necessity of testing germ cells for mutations to prevent the birth of an affected child or predicting whether healthy adults will develop future life-threatening illness, patient autonomy in the choice of whether to know, or not know, one's genetic make-up remains a core principle of genetic counseling.
Asunto(s)
Asesoramiento Genético , Enfermedad de Alzheimer/genética , Femenino , Predisposición Genética a la Enfermedad , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/terapia , Humanos , Recién Nacido , Tamizaje Neonatal , Embarazo , Diagnóstico PrenatalRESUMEN
In a time of emerging genetic tests and technologies, genetic counselors are faced with the challenge of translating complex genomic data into information that will aid their client's ability to learn about, understand, make, and cope with decisions relating to genetic diagnoses. The first of two companion articles in this issue examines the role of the genetic counselor, particularly in counseling individuals at risk for or diagnosed with breast cancer, in an era of high-tech health care and gene patents.
Asunto(s)
Asesoramiento Genético , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Femenino , Genes BRCA1 , Genes BRCA2 , Humanos , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/genética , Patentes como Asunto , LinajeRESUMEN
Risks of breast and ovarian cancer were determined for Ashkenazi Jewish women with inherited mutations in the tumor suppressor genes BRCA1 and BRCA2. We selected 1008 index cases, regardless of family history of cancer, and carried out molecular analysis across entire families. The lifetime risk of breast cancer among female mutation carriers was 82%, similar to risks in families with many cases. Risks appear to be increasing with time: Breast cancer risk by age 50 among mutation carriers born before 1940 was 24%, but among those born after 1940 it was 67%. Lifetime risks of ovarian cancer were 54% for BRCA1 and 23% for BRCA2 mutation carriers. Physical exercise and lack of obesity in adolescence were associated with significantly delayed breast cancer onset.
